DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC ) Alterations

International Journal of Molecular Sciences
Evelina MieleGiuseppe Maria Milano

Abstract

Undifferentiated soft tissue sarcomas are a group of diagnostically challenging tumors in the pediatric population. Molecular techniques are instrumental for the categorization and differential diagnosis of these tumors. A subgroup of recently identified soft tissue sarcomas with undifferentiated round cell morphology was characterized by Capicua transcriptional receptor (CIC) rearrangements. Recently, an array-based DNA methylation analysis of undifferentiated tumors with small blue round cell histology was shown to provide a highly robust and reproducible approach for precisely classifying this diagnostically challenging group of tumors. We describe the case of an undifferentiated sarcoma of the abdominal wall in a 12-year-old girl. The patient presented with a voluminous mass of the abdominal wall, and multiple micro-nodules in the right lung. The tumor was unclassifiable with current immunohistochemical and molecular approaches. However, DNA methylation profiling allowed us to classify this neoplasia as small blue round cell tumor with CIC alterations. The patient was treated with neoadjuvant chemotherapy followed by complete surgical resection and adjuvant chemotherapy. After 22 months, the patient is disease-free and in g...Continue Reading

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Citations

Jun 17, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Lazaro De LimaLuca Massimi
Nov 6, 2020·Pediatric Investigation·Godfrey Chi-Fung Chan, Carol Matias Chan
Jan 12, 2021·The Journal of Pathology·Sarmishta KannanKevin B Jones

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Methods Mentioned

BETA
methylation profiling
biopsy
PCR
Chip
MDS
RNA-Seq

Software Mentioned

Archer FusionPlex
Archer Analysis

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